Neuroaxonal Dystrophy (NAD1)
Disease description:
Forms of Neuroaxonal Dystrophy (NAD) occur in a number of dog breeds. The form that occurs in Miniature American Shepherds and Miniature Australian Shepherds is characterized by slowly progressive hind limb weakness, ataxia, and incoordination starting at around two years of age. This is often accompanied by dragging of the hind feet. Affected dogs may also develop a curvature of the spine. Examination of the brains and spinal cords of affected dogs that were euthanized due to disease progression showed widespread degeneration of nerve cells.
Breeds affected: Miniature American Shepherd and Miniature Australian Shepherd
Reference:
Cook SR, Schwarz C, Guevar J, Assenmacher CA, Sheehy M, Fanzone N, Church ME, Murgiano L, Casal ML, Jagannathan V, Gutierrez-Quintana R, Lowrie M, Steffen F, Leeb T, Ekenstedt KJ. Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy. Movement Disorders. 39:2049-2057, 2024.
Gene: RNF170
Explanation of PRA-N DNA Test Results
Normal (N/N)
This dog tested clear for the mutation causing neuroaxonal dystrophy in this breed. It can only transmit a normal gene to offspring and can be bred to a dog with any test result without producing affected offspring.
Carrier (A/N)
This dog has tested as a carrier for the mutation causing neuroaxonal dystrophy in this breed. It will not develop the disease, but it may transmit either a normal gene or an affected gene to offspring. To avoid producing affected offspring this dog should only be bred to dogs DNA-tested NORMAL for this mutation.
Affected (A/A)
This dog has tested as affected for the mutation causing neuroaxonal dystrophy in this
breed. It is likely to develop symptoms of the disease. For more information on this disorder, please refer to the Canine Genetics Laboratory website https://cvm.missouri.edu/research/canine-genetics-laboratory/
Tests are ordered online through the secure area of the OFA website. Payment is accepted by credit card (MasterCard and VISA). The OFA administers all order handling. Upon receipt of an order, the OFA will send out the test kit which will include a Foam-Tipped Applicator card for DNA sample collection, along with sample collection instructions. Using the FTA card technology, owners can safely collect DNA samples at home. The collection process is non-invasive, and no veterinary appointment is necessary.
Samples are then sent to the University of Missouri College of Veterinary Medicine where the samples will be processed by the Small Animal Molecular Genetics Lab. Results will be forwarded to the OFA, and the OFA will issue the resulting report to the owner.
The fee for each test includes the test kit, laboratory processing, and subsequent registration in the OFA databases.